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810 results

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Page 1
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Malerba F, Alberini G, Balagura G, Marchese F, Amadori E, Riva A, Vari MS, Gennaro E, Madia F, Salpietro V, Angriman M, Giordano L, Accorsi P, Trivisano M, Specchio N, Russo A, Gobbi G, Raviglione F, Pisano T, Marini C, Mancardi MM, Nobili L, Freri E, Castellotti B, Capovilla G, Coppola A, Verrotti A, Martelli P, Miceli F, Maragliano L, Benfenati F, Cilio MR, Johannesen KM, Møller RS, Ceulemans B, Minetti C, Weckhuysen S, Zara F, Taglialatela M, Striano P. Malerba F, et al. Among authors: marini c. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 Free PMC article.
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Bonanni P, et al. Among authors: marini c. Epilepsia. 2004 Feb;45(2):149-58. doi: 10.1111/j.0013-9580.2004.04303.x. Epilepsia. 2004. PMID: 14738422 Free article.
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F. Striano P, et al. Among authors: marini c. Epilepsia. 2007 Jun;48(6):1092-6. doi: 10.1111/j.1528-1167.2007.01020.x. Epub 2007 Mar 22. Epilepsia. 2007. PMID: 17381446 Free article.
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, LePiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A. Annesi F, et al. Among authors: marini c. Epilepsia. 2007 Sep;48(9):1686-1690. doi: 10.1111/j.1528-1167.2007.01173.x. Epub 2007 Jul 18. Epilepsia. 2007. PMID: 17634063 Free article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.
Ragona F, Granata T, Dalla Bernardina B, Offredi F, Darra F, Battaglia D, Morbi M, Brazzo D, Cappelletti S, Chieffo D, De Giorgi I, Fontana E, Freri E, Marini C, Toraldo A, Specchio N, Veggiotti P, Vigevano F, Guerrini R, Guzzetta F, Dravet C. Ragona F, et al. Among authors: marini c. Epilepsia. 2011 Feb;52(2):386-92. doi: 10.1111/j.1528-1167.2010.02925.x. Epub 2011 Jan 26. Epilepsia. 2011. PMID: 21269283 Free article.
The genetics of Dravet syndrome.
Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R. Marini C, et al. Epilepsia. 2011 Apr;52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Epilepsia. 2011. PMID: 21463275 Free article. Review.
810 results